Kazantseva Anastasiya V, Gaysina Daria A, Faskhutdinova Gulnaz G, Noskova Tatyana, Malykh Sergey B, Khusnutdinova Elza K
Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Prospekt Oktyabrya, Ufa, Russia.
Psychiatr Genet. 2008 Aug;18(4):167-76. doi: 10.1097/YPG.0b013e328304deb8.
Numerous studies have reported association of the serotonin transporter gene (5-HTT) polymorphisms and neuroticism and traits characterizing sociability and activity. This study aimed to define a single genotype effect of three polymorphic markers in the 5-HTT gene (5-HTTLPR, A/G SNP in 5-HTTLPR and STin2 VNTR) and to check possible association of the 5-HTT haplotypes and personality traits [assessed with Eysenck Personality Inventory (EPI) and Temperament and Character Inventory (TCI) questionnaires] in 301 healthy young individuals.
To investigate single genotype and haplotype effects of all polymorphic markers, multivariate analysis of variance and haplotype trend regression analyses were conducted correspondingly.
Individuals with STin2.10 allele scored significantly lower on Neuroticism (EPI) (P=0.007) and Harm Avoidance (P=0.005) in the overall sample. The same pattern of association was reported in women: carriers of STin2.10 allele scored lower on Harm Avoidance (TCI) (P=0.008). Haplotype trend regression analyses revealed that carriers of S12 haplotype had lower sociability-related traits such as Extraversion (EPI) and Novelty Seeking (TCI), whereas Harm Avoidance (TCI) (anxiety-related trait) was higher. Opposite association was observed for S10 haplotype: Extraversion (EPI) score was higher, whereas Harm Avoidance (TCI) score was lower in carriers of this haplotype.
As single polymorphism effect of STin2 was observed in relation to anxiety-related traits, opposite S10 and S12 haplotype effects on Neuroticism and Harm Avoidance could be explained by the larger impact of STin2 polymorphism. Controversially, we consider that the variance in sociability-related traits is related to specific haplotypes of 5-HTT gene.
众多研究报告了血清素转运体基因(5-HTT)多态性与神经质以及社交性和活动性特征之间的关联。本研究旨在确定5-HTT基因中三个多态性标记(5-HTTLPR、5-HTTLPR中的A/G单核苷酸多态性以及STin2可变数目串联重复序列)的单一基因型效应,并检验301名健康年轻个体中5-HTT单倍型与人格特质[通过艾森克人格问卷(EPI)和气质与性格问卷(TCI)评估]之间可能存在的关联。
为研究所有多态性标记的单一基因型和单倍型效应,相应地进行了多变量方差分析和单倍型趋势回归分析。
在整个样本中,携带STin2.10等位基因的个体在神经质(EPI)方面得分显著更低(P = 0.007),在回避伤害方面得分也显著更低(P = 0.005)。在女性中也报告了相同的关联模式:携带STin2.10等位基因的个体在回避伤害(TCI)方面得分更低(P = 0.008)。单倍型趋势回归分析显示,S12单倍型的携带者具有较低的社交相关特质,如外向性(EPI)和寻求新奇性(TCI),而回避伤害(TCI)(一种与焦虑相关的特质)则更高。对于S10单倍型观察到相反的关联:该单倍型的携带者外向性(EPI)得分更高,而回避伤害(TCI)得分更低。
由于观察到STin2的单一多态性效应与焦虑相关特质有关,S10和S12单倍型对神经质和回避伤害的相反效应可能由STin2多态性的更大影响来解释。有争议的是,我们认为社交相关特质的差异与5-HTT基因的特定单倍型有关。